Assay Details
Target Gene Details
Entrez Gene ID: | 158787 |
Gene Name: | RIB43A domain with coiled-coils 1 |
Gene Aliases: |
2610028I09Rik |
Location: |
Chr.X:53422782-53431120 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 4 - Intron 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RIBC1 | NM_001031745.4 | NP_001026915.1 | ||
NM_001267053.3 | NP_001253982.1 | |||
NM_144968.3 | NP_659405.1 | |||
XM_005261988.3 | XP_005262045.1 | |||
XM_005261990.3 | XP_005262047.1 | |||
AK057345.1 | BAB71438.1 | |||
AK290346.1 | ||||
AK292871.1 | ||||
AK304179.1 | ||||
BC036767.1 | AAH36767.1 | |||
CF272701.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2740175 | Chr.X:52862926 - 55652533 on Build GRCh38 | Deletion | FAM120C IQSEC2 PHF8 FAM156A SNORA11 MIR6894 LOC100421746 ALAS2 MIR4536-1 ITIH6 FAM156B WNK3 PAGE2 FAM104B HUWE1 FGD1 MIRLET7F2 RIBC1 APEX2 KANTR PAGE3 SMC1A GPR173 TSPYL2 PAGE2B KDM5C XAGE3 USP51 PFKFB1 GNL3L MAGED2 MIR6857 HSD17B10 SNORA109 MIR98 MTRNR2L10 MIR6895 MAGEH1 FOXR2 PAGE5 TSR2 MIR4536-2 TRO |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | FAM120C IQSEC2 PHF8 FAM156A SNORA11 MIR6894 LOC100421746 ALAS2 MIR4536-1 ITIH6 FAM156B WNK3 PAGE2 FAM104B HUWE1 FGD1 MIRLET7F2 RIBC1 APEX2 KANTR PAGE3 SMC1A GPR173 TSPYL2 PAGE2B KDM5C XAGE3 USP51 PFKFB1 GNL3L MAGED2 MIR6857 HSD17B10 SNORA109 MIR98 MTRNR2L10 MIR6895 MAGEH1 FOXR2 PAGE5 TSR2 MIR4536-2 TRO |
nsv6908 | Chr.X:53412544 - 53446505 on Build GRCh38 | Insertion | HSD17B10 RIBC1 SMC1A |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |